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Results 1 - 2 of 2 for Generalized neonatal hypotonia
  1. ... family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related ...
  2. ... being silenced. Other affected individuals have a more generalized impairment of gene silencing involving many imprinted regions, ...